ClinVar Miner

Submissions for variant NM_000397.3(CYBB):c.532A>C (p.Thr178Pro) (rs151344497)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000022862 SCV000044153 pathogenic Atypical mycobacteriosis, familial, X-linked 2 2011-03-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000059260 SCV000090789 not provided not provided no assertion provided not provided
GeneReviews RCV000208608 SCV000264459 pathogenic Chronic granulomatous disease 2016-02-11 no assertion criteria provided literature only

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